Gene Page:JPH3

Summary?
GeneID 57338
Symbol JPH3
Synonyms CAGL237|HDL2|JP-3|JP3|TNRC22
Description junctophilin 3
Reference MIM:605268|HGNC:HGNC:14203|Ensembl:ENSG00000154118|HPRD:05589|Vega:OTTHUMG00000137656
Gene type protein-coding
Map location 16q24.3
Pascal p-value 0.015
Sherlock p-value 0.983
Fetal beta -0.952
DMG 1 (# studies)
Support CompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Wockner_2014 Genome-wide DNA methylation analysis This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 2
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
JPH3 chr16 87678579 C T NM_020655
NR_073379		 .
.		 silent
npcRNA		 Schizophrenia DNM:Fromer_2014

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg26764761 16 87682142 JPH3 3.4E-5 0.49 0.019 DMG:Wockner_2014
cg04763156 16 87650452 JPH3 1.721E-4 0.472 0.033 DMG:Wockner_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
死神:胎儿(13 - 26 postconception凌晨ks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0003674 molecular_function ND -
GO:0005515 protein binding 新闻学会 17353931
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0040011 locomotion IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005792 microsome IEA -
GO:0005789 endoplasmic reticulum membrane IEA -
GO:0005783 endoplasmic reticulum IEA -
GO:0016021 integral to membrane NAS 10891348
GO:0005886 plasma membrane IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
SENESE HDAC1 AND HDAC2 TARGETS DN 232 139 All SZGR 2.0 genes in this pathway
SENESE HDAC2 TARGETS DN 133 77 All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174 695 All SZGR 2.0 genes in this pathway
RASHI RESPONSE TO IONIZING RADIATION 4 61 34 All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 16Q24 AMPLICON 53 38 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237 837 All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 2 50 34 All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419 273 All SZGR 2.0 genes in this pathway
MCGARVEY SILENCED BY METHYLATION IN COLON CANCER 42 29 All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 AND H3K27ME3 349 234 All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435 318 All SZGR 2.0 genes in this pathway
MIKKELSEN NPC HCP WITH H3K27ME3 341 243 All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590 403 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-148/152 1434 1440 m8 hsa-miR-148a UCAGUGCACUACAGAACUUUGU
hsa-miR-152brain UCAGUGCAUGACAGAACUUGGG
hsa-miR-148b UCAGUGCAUCACAGAACUUUGU
miR-186 1421 1427 1A hsa-miR-186 CAAAGAAUUCUCCUUUUGGGCUU
hsa-miR-186 CAAAGAAUUCUCCUUUUGGGCUU
miR-199 1436 1442 1A hsa-miR-199a CCCAGUGUUCAGACUACCUGUUC
hsa-miR-199b CCCAGUGUUUAGACUAUCUGUUC
miR-204/211 40 46 m8 hsa-miR-204brain UUCCCUUUGUCAUCCUAUGCCU
hsa-miR-211 UUCCCUUUGUCAUCCUUCGCCU
miR-330 1375 1381 m8 hsa-miR-330brain GCAAAGCACACGGCCUGCAGAGA